Disease/Condition by traits/symptoms Flashcards
1
Q
Diagnosis?
- short stature
- delayed closure of cranial fontanels and sutures
- Wormian bones
- frontal bossing
- late erupting teeth
- rudimentary or absent clavicle
A
Cleidocranial Dysplasia
2
Q
Diagnosis?
Progressive loss of alpha-motor neurons in anterior horn of spinal cord
A
SMA
3
Q
Diagnosis?
- ligamentous hyperlaxity
- abnormal facial features
- multiple joint dislocations
A
Larsen’s Syndrome
(aka God’s joke on humans)
4
Q
Who am I?
Mutation on 17q21
AD or DeNovo
Increased RAS activity
AL tibial bowing
Radial Bowing
A
NF1
5
Q
Diagnosis?
A short Finlander.
A
Diastrophic Dysplasia
6
Q
Diagnosis?
- facial features
- frontal bossing
- button noses
- small nasal bridges
- extremities
- trident hands (inability to approximate extended middle and ring finger)
- bowed legs
- radial head subluxation
- muscular hypotonia
A
Achondroplasia
7
Q
Diagnosis?
Contractures: adduction and internal rotation of the shoulders, hip flexion and subluxation/dislocation, knee rigidity, and club feet.
Not progressive
A
Arthrogryposis
8
Q
Who am I?
- rhizomelic limb shortening
- normal intelligence
- frontal bossing
- spinal stenosis
A
Achondroplasia
9
Q
Diagnosis?
codfish vertebrae (compression fx)
basilar invagination
A
OI
10
Q
Diagnosis?
- ataxia
- areflexia
- positive plantar response
A
Freidrichs Ataxia
11
Q
Diagnosis?
Flat face
Short
AAI
Genu Valgum
A
SED
12
Q
Diagnosis?
- proportionate dwarfism
- increased rate of carpal tunnel syndrome
- C1-C2 instability
- delayed hip dysplasia
- abnormal epiphyses
- bullet-shaped phalanges
- genu valgum
A
Mucopolysaccharidosis
